Patient voice in drug development is an integral component of both regulatory guidance and development pathways for rare disease therapies. This study provides insights from the Your Voice study in Duchenne muscular dystrophy (DMD) to allow the translation of disease burden to measurable outcomes for patients with ambulatory, transitional, and non-ambulatory functional statuses. When patients were asked what they wished a drug could do, all broadly wanted improved muscle function. Unfortunately, muscle cannot be regenerated at higher stages of DMD, thus, it is important to further define the broad concept of improved muscle function in a way that is meaningful to patients from each functional group.
To establish measurable outcomes of a broad concept like improved muscle function, we looked at comments across functional groups to determine if specific comments could provide guidance. In the Ambulatory group, 6 concepts were mentioned (0% specific). In the transitional group, 7 concepts were mentioned (43% specific), with respondents noting items such as improvement in upper body strength and the ability to raise their arms. In the non-ambulatory group, 7 concepts were mentioned (57% specific) including improvement or maintenance of upper body strength, stability, and dexterity.
This illustrates that while patients with DMD desire improved muscle function, outcomes can be measured differently for each functional group that correlates with the current abilities of each patient. This is an invaluable approach in providing guidance for drug companies to streamline the drug development process for what is meaningful to patients from each functional group with DMD.